Cerebral Palsy
Gene: CACNA1BEnsemblGeneIds (GRCh38): ENSG00000148408
EnsemblGeneIds (GRCh37): ENSG00000148408
OMIM: 601012, Gene2Phenotype
CACNA1B is in 5 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with biallelic variants (1 missense, 1 splice variant but functional assessment not performed) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Additional case study reporting compound heterozygous frameshift variants in a child with epilepsy and cerebral palsy (PMID: 39005920).
Sources: LiteratureCreated: 27 Aug 2024, 7:33 a.m. | Last Modified: 27 Aug 2024, 7:33 a.m.
Panel Version: 1.367
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM#618497
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM#618497
- OMIM
- 601012
- Clinvar variants
- Variants in CACNA1B
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna1b has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cacna1b has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: CACNA1B was added gene: CACNA1B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1B were set to PMID: 38693247 Phenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM#618497 Review for gene: CACNA1B was set to RED